PubRank

S N Thibodeau

Author PubWeight™ 194.12‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998 20.08
2 Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. N Engl J Med 1996 10.60
3 APC mutations occur early during colorectal tumorigenesis. Nature 1992 9.50
4 Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998 4.39
5 Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. JAMA 1995 3.84
6 Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers. J Natl Cancer Inst 1999 3.46
7 Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet 2000 3.33
8 Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998 3.22
9 Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 1994 3.22
10 BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004 2.75
11 The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001 2.68
12 Hippocampal volumes in cognitively normal persons at genetic risk for Alzheimer's disease. Ann Neurol 1998 2.48
13 Colorectal cancer screening by detection of altered human DNA in stool: feasibility of a multitarget assay panel. Gastroenterology 2000 2.25
14 Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res 1998 1.99
15 Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998 1.96
16 Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum Mol Genet 1994 1.90
17 Hippocampal atrophy and apolipoprotein E genotype are independently associated with Alzheimer's disease. Ann Neurol 1998 1.86
18 Apolipoprotein E: risk factor for Alzheimer disease. Am J Hum Genet 1994 1.83
19 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet 1996 1.76
20 Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 1993 1.71
21 Evidence for a prostate cancer-susceptibility locus on chromosome 20. Am J Hum Genet 2000 1.69
22 High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 1994 1.68
23 Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease. Am J Kidney Dis 1998 1.64
24 Evidence for autosomal dominant inheritance of prostate cancer. Am J Hum Genet 1998 1.63
25 The location of the Philadelphia chromosomal breakpoint site and prognosis in chronic granulocytic leukemia. Leukemia 1990 1.49
26 Iron overload in cirrhosis-HFE genotypes and outcome after liver transplantation. Hepatology 2000 1.45
27 Genotype prediction in the fragile X syndrome. J Med Genet 1991 1.45
28 Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. Clin Chem 1997 1.42
29 Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome. Am J Hum Genet 1991 1.38
30 Candidate-gene association studies with pedigree data: controlling for environmental covariates. Genet Epidemiol 2003 1.36
31 Alpha1-antitrypsin deficiency allele carriers among lung cancer patients. Cancer Epidemiol Biomarkers Prev 1999 1.32
32 The genomic organization of human dystrobrevin. Neurogenetics 1997 1.29
33 The premortem recognition of systemic senile amyloidosis with cardiac involvement. Am J Med 1996 1.28
34 Higher risk of mismatch repair-deficient colorectal cancer in alpha(1)-antitrypsin deficiency carriers and cigarette smokers. Mol Genet Metab 2000 1.28
35 Allelic imbalance and microsatellite instability in prostatic adenocarcinoma. Cancer Res 1996 1.28
36 BRCA1 and BRCA2 have a limited role in familial prostate cancer. Cancer Res 2000 1.25
37 Role of HPC2/ELAC2 in hereditary prostate cancer. Cancer Res 2001 1.24
38 Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. Genomics 1989 1.24
39 The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. Gut 2010 1.23
40 The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 2003 1.22
41 Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat 2000 1.22
42 Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. Hum Genet 2000 1.20
43 Preclinical memory decline in cognitively normal apolipoprotein E-epsilon4 homozygotes. Neurology 1999 1.20
44 HMSH6 alterations in patients with microsatellite instability-low colorectal cancer. Cancer Res 2000 1.20
45 Microsatellite instability in Muir-Torre syndrome. Cancer Res 1994 1.19
46 Synthesis of renin by tubulocystic epithelium in autosomal-dominant polycystic kidney disease. Kidney Int 1992 1.18
47 Representative cDNA libraries and their utility in gene expression profiling. Biotechniques 1999 1.17
48 The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)--results of an international collaborative study. Fam Cancer 2001 1.13
49 Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet 1999 1.13
50 Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas. J Clin Invest 1991 1.11
51 Expression of p53 and 17p allelic loss in colorectal carcinoma. Cancer Res 1992 1.11
52 Predictive value of APOE genotyping in incipient Alzheimer's disease. Ann N Y Acad Sci 1996 1.11
53 Origin of microsatellite instability in gastric cancer. Am J Pathol 1999 1.10
54 Confirmation of linkage of prostate cancer aggressiveness with chromosome 19q. Am J Hum Genet 2003 1.10
55 HEF1, a novel target of Wnt signaling, promotes colonic cell migration and cancer progression. Oncogene 2011 1.10
56 Identical precursors for serum transferrin and egg white conalbumin. J Biol Chem 1978 1.10
57 A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet 1995 1.10
58 Reduced COX-2 protein in colorectal cancer with defective mismatch repair. Cancer Res 1998 1.09
59 Frequent loss of heterozygosity at 7q31.1 in primary prostate cancer is associated with tumor aggressiveness and progression. Cancer Res 1995 1.06
60 Precursor of egg white ovomucoid. Amino acid sequence of an NH2-terminal extension. J Biol Chem 1978 1.04
61 Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in families with hereditary prostate cancer. Am J Hum Genet 2000 1.04
62 Clonal studies in the myelodysplastic syndrome using X-linked restriction fragment length polymorphisms. Blood 1990 1.02
63 Association of Peutz-Jeghers-like mucocutaneous pigmentation with breast and gynecologic carcinomas in women. Medicine (Baltimore) 2000 1.01
64 Current status of adjuvant chemotherapy for colorectal cancer. Can molecular markers play a role in predicting prognosis? Cancer 1992 1.00
65 Familial amyloidosis: a study of 52 North American-born patients examined during a 30-year period. Mayo Clin Proc 1992 0.99
66 Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. Hum Mol Genet 1993 0.97
67 H63D is an haemochromatosis associated allele. Gut 1998 0.97
68 The application of fluorescent in situ hybridization to detect Mbcr/abl fusion in variant Ph chromosomes in CML and ALL. Cancer Genet Cytogenet 1993 0.95
69 Tumor necrosis factor-alpha allelic frequency and chromosome 6 allelic imbalance in patients with colorectal cancer. Cancer Res 1996 0.94
70 hMLH1 and hMSH2 expression in human hepatocellular carcinoma. Int J Oncol 2001 0.94
71 Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes. Br J Cancer 2011 0.93
72 The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet 1995 0.93
73 Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. Clin Genet 1996 0.92
74 SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies. J Neurol Neurosurg Psychiatry 2005 0.92
75 A simple assay for the screening of the cystic fibrosis allele in carriers of the Phe508 deletion mutation. Mayo Clin Proc 1990 0.90
76 Genomic instability in neoplasia. Semin Cell Biol 1995 0.90
77 Identification of multiple endocrine neoplasia, type 2 gene carriers using linkage analysis and analysis of the RET proto-oncogene. J Clin Endocrinol Metab 1994 0.89
78 Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism. Blood 1987 0.89
79 Transthyretin Ser 6 gene frequency in individuals without amyloidosis. Hum Genet 1995 0.87
80 Identification of the molecular genetic defect of patients with methemoglobin M-Kankakee (M-Iwate), alpha87 (F8) His --> Tyr: evidence for an electrostatic model of alphaM hemoglobin assembly. Blood 1999 0.87
81 Microsatellite instability and hMLH1/hMSH2 expression in young endometrial carcinoma patients: associations with family history and histopathology. Int J Cancer 2000 0.87
82 A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. Pediatr Res 1998 0.87
83 Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q. Am J Cardiol 1994 0.86
84 Mutations in the RET protooncogene in sporadic pheochromocytomas. J Clin Endocrinol Metab 1995 0.86
85 Circulating heart autoantibodies in familial as compared with nonfamilial idiopathic dilated cardiomyopathy. Mayo Clin Proc 1994 0.86
86 Processing of precursor proteins by preparations of oviduct microsomes. Ann N Y Acad Sci 1980 0.85
87 Apolipoprotein E allele in Chamorros with amyotrophic lateral sclerosis/parkinsonism-dementia complex. Lancet 1994 0.84
88 The APC E1317Q variant in adenomatous polyps and colorectal cancers. Cancer Epidemiol Biomarkers Prev 2003 0.84
89 A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair. Genes Chromosomes Cancer 2001 0.84
90 Simultaneous measurement of estrogen and progesterone receptors in tumor cytosols with use of 125I-labeled estradiol and of 3H-R5020. Clin Chem 1981 0.84
91 Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression. Clin Genet 2012 0.84
92 Familial medullary thyroid cancer and prominent corneal nerves: clinical and genetic analysis. J Clin Endocrinol Metab 1995 0.83
93 Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 1997 0.83
94 Analysis of the prostate cancer-susceptibility locus HPC20 in 172 families affected by prostate cancer. Am J Hum Genet 2001 0.83
95 DNA mismatch repair genes hMLH1, hMSH2, and hMSH6 are not inactivated in bronchioloalveolar carcinomas of the lung. Cancer 2001 0.83
96 Experimental designs for array comparative genomic hybridization technology. Cytogenet Genome Res 2013 0.82
97 Absence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability. Clin Cancer Res 1996 0.82
98 Cotranslational sequestration of egg white proteins and placental lactogen inside membrane vesicles. Ann N Y Acad Sci 1980 0.82
99 Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus. Am J Med Genet 1991 0.81
100 Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. Clin Genet 2010 0.80
101 Regression models for linkage heterogeneity applied to familial prostate cancer. Am J Hum Genet 2001 0.80
102 Linkage homogeneity near the fragile X locus in normal and fragile X families. Genomics 1991 0.80
103 Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II. Ann Intern Med 1995 0.80
104 Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing. Am J Med Genet 1994 0.80
105 Allelic imbalance and microsatellite instability in resected Duke's D colorectal cancer. Diagn Mol Pathol 1997 0.80
106 Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb). Hemoglobin 1997 0.80
107 Update on hereditary hemochromatosis and the HFE gene. Mayo Clin Proc 1999 0.80
108 Mycosis fungoides in children and adolescents. J Am Acad Dermatol 1990 0.80
109 Primary splenic lymphocyte-depletion Hodgkin's disease. Am J Clin Pathol 1990 0.79
110 Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16. Clin Genet 1993 0.79
111 Linkage of nonspecific X-linked mental retardation to Xq21.31. Am J Med Genet 1992 0.79
112 An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1. J Med Genet 2002 0.79
113 Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis. Hemoglobin 1997 0.79
114 Prevalence and clinical significance of HFE gene mutations in patients with iron overload. Am J Gastroenterol 2000 0.79
115 Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics. Am J Med Genet 1994 0.79
116 Analysis of the estrogen receptor from human uterus and breast tumor tissue by isoelectric focusing. J Clin Endocrinol Metab 1983 0.79
117 Hb Silver Springs [beta 131(H9)Gln-->His], a new hemoglobin variant found in six African-Americans. Hemoglobin 1998 0.79
118 No fumarate hydratase (FH) mutations in hereditary prostate cancer. J Med Genet 2003 0.79
119 Uniparental disomy in congenital disorders: a prospective study. Am J Med Genet 1995 0.79
120 A genetic review of complete and partial hydatidiform moles and nonmolar triploidy. Mayo Clin Proc 1992 0.78
121 Will molecular genetic markers help predict the clinical behavior of colorectal neoplasia? Gastroenterology 1992 0.78
122 Differential expression and allelotyping of the p73 gene in neuroblastoma. Int J Oncol 2000 0.78
123 Molecular-clinical correlations in children and adults with fragile X syndrome. Am J Dis Child 1993 0.77
124 T-cell receptor gene rearrangement analysis: cutaneous T cell lymphoma, peripheral T cell lymphoma, and premalignant and benign cutaneous lymphoproliferative disorders. J Am Acad Dermatol 1991 0.77
125 Demonstration of clonality, by X-linked DNA analysis, in chronic natural killer cell lymphocytosis and successful therapy with oral cyclophosphamide. Leukemia 1992 0.77
126 De novo 16p deletion: ATR-16 syndrome. Am J Med Genet 1997 0.77
127 Hemoglobin S/hemoglobin Osler: a case with 3 beta globin chains. DNA sequence (AAT) proves that Hb Osler is beta 145 Tyr-->Asn. Am J Hematol 1996 0.77
128 DNA sequence analysis proves Hb M-Milwaukee-2 is due to beta-globin gene codon 92 (CAC-->TAC), the presumed mutation of Hb M-Hyde Park and Hb M-Akita. Hemoglobin 1998 0.76
129 Microsatellite instability in keratoacanthoma. Cancer 1995 0.76
130 Fragile X syndrome: skin elastin abnormalities. Birth Defects Orig Artic Ser 1987 0.76
131 Molecular remission occurring after donor leukocyte infusions for the treatment of relapsed chronic myelogenous leukemia after allogeneic bone marrow transplantation. Bone Marrow Transplant 1992 0.76
132 Confirmation of lymphomatous pulmonary involvement by immunophenotypic and gene rearrangement analysis of bronchoalveolar lavage fluid. Mayo Clin Proc 1990 0.76
133 Hb Cook [beta 132(H10)Lys-->Thr]: a new hemoglobin variant in a southeast Asian family. Hemoglobin 1996 0.76
134 Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy. J Med Genet 1995 0.75
135 Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. J Med Genet 1992 0.75
136 Recent applications of PCR in clinical laboratory medicine. Clin Chem 1994 0.75
137 Refined gene localization for MRX7. Am J Med Genet 1999 0.75
138 Genetic testing for Prader-Willi and Angelman syndromes. Mayo Clin Proc 1995 0.75
139 A modified method for quantifying urinary vanillylmandelic acid. Clin Chem 1987 0.75
140 Hb Tak confirmed by DNA analysis: not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote. Hemoglobin 1998 0.75
141 Marrow hypoplasia associated with a monoclonal CD8 large granular lymphocyte proliferation: reversal with cyclophosphamide and prednisone. Am J Med 1989 0.75
142 Carrier identification of cystic fibrosis by recombinant DNA techniques. Mayo Clin Proc 1989 0.75
143 A polymerase chain reaction-based test for spinal and bulbar muscular atrophy. Mayo Clin Proc 1996 0.75
144 Eight novel polymorphisms in the dystrophin gene of African-Americans: the rate of polymorphism is high. Hum Mutat 1993 0.75
145 Mutation detection in colorectal cancers : direct sequencing of DNA mismatch repair genes. Methods Mol Med 2001 0.75
146 The usefulness of cytogenetic and DNA linkage analysis in counseling families with fragile X syndrome. Birth Defects Orig Artic Ser 1990 0.75
147 Search for chromosome instability in lymphocytes with germ-line mutations in DNA mismatch repair genes. Cancer Genet Cytogenet 1998 0.75